Paralogue Annotation for KCNQ1 residue 232

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 232
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 232

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA2L298FEpileptic encephalopathyMedium9 25751627, 25751627

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1---------------SKGQVFATSAIRGIR>F<LQILRMLHVDRQGGTWRLLGSVVFIHRQEL262
KCNQ2---------------SQGNVFATSALRSLR>F<LQILRMIRMDRRGGTWKLLGSVVYAHSKEL232
KCNQ3---------------NQGNVLA-TSLRSLR>F<LQILRMLRMDRRGGTWKLLGSAICAHSKEL261
KCNQ4---------------TQGNIFATSALRSMR>F<LQILRMVRMDRRGGTWKLLGSVVYAHSKEL238
KCNQ5---------------TQGNIFATSALRSLR>F<LQILRMVRMDRRGGTWKLLGSVVYAHSKEL266
KCNA1AEQEG-------N-QKGEQATSLAILRVIR>L<VRVFRIFKLSRHSKGLQILGQTLKASMREL326
KCNA10VQETEP---------SAQQNMSLAILRIIR>L<VRVFRIFKLSRHSKGLQILGQTLKASMREL375
KCNA2AEKPE-------DAQQGQQAMSLAILRVIR>L<VRVFRIFKLSRHSKGLQILGQTLKASMREL328
KCNA3AERQ----------GNGQQAMSLAILRVIR>L<VRVFRIFKLSRHSKGLQILGQTLKASMREL398
KCNA4AQQQGG------GNGQQQQAMSFAILRIIR>L<VRVFRIFKLSRHSKGLQILGHTLRASMREL478
KCNA5AEQQ---PGGGGGGQNGQQAMSLAILRVIR>L<VRVFRIFKLSRHSKGLQILGKTLQASMREL434
KCNA6VQQQEQQPASGGGGQNGQQAMSLAILRVIR>L<VRVFRIFKLSRHSKGLQILGKTLQASMREL376
KCNA7ARQR----------GVGQQAMSLAILRVIR>L<VRVFRIFKLSRHSKGLQILGQTLRASMREL312
KCNB1S---N--------KSVLQFQNVRRVVQIFR>I<MRILRILKLARHSTGLQSLGFTLRRSYNEL331
KCNB2S---N--------KSVLQFQNVRRVVQIFR>I<MRILRILKLARHSTGLQSLGFTLRRSYNEL335
KCNC1-------------LSSKAAKDVLGFLRVVR>F<VRILRIFKLTRHFVGLRVLGHTLRASTNEF345
KCNC2-------------LSSKAAKDVLGFLRVVR>F<VRILRIFKLTRHFVGLRVLGHTLRASTNEF382
KCNC3-------------LSSKAAKDVLGFLRVVR>F<VRILRIFKLTRHFVGLRVLGHTLRASTNEF448
KCNC4-------------LSSKAARDVLGFLRVVR>F<VRILRIFKLTRHFVGLRVLGHTLRASTNEF381
KCND1-----------------KNDDVSGAFVTLR>V<FRVFRIFKFSRHSQGLRILGYTLKSCASEL326
KCND2-----------------DNEDVSGAFVTLR>V<FRVFRIFKFSRHSQGLRILGYTLKSCASEL324
KCND3-----------------NNEDVSGAFVTLR>V<FRVFRIFKFSRHSQGLRILGYTLKSCASEL321
KCNF1L-----------GARMMELTNVQQAVQALR>I<MRIARIFKLARHSSGLQTLTYALKRSFKEL324
KCNG1AAAGRR----KPGAGNSYLDKVGLVLRVLR>A<LRILYVMRLARHSLGLQTLGLTARRCTREF377
KCNG2-----A----AGPGGTKLLERAGLVLRLLR>A<LRVLYVMRLARHSLGLRSLGLTMRRCAREF322
KCNG3-----------FTGENSQLQRAGVTLRVLR>M<MRIFWVIKLARHFIGLQTLGLTLKRCYREM323
KCNG4EPPEDG----ERPSGSSYLEKVGLVLRVLR>A<LRILYVMRLARHSLGLQTLGLTVRRCTREF371
KCNS1ALG-D--------QGGKEFGHLGKVVQVFR>L<MRIFRVLKLARHSTGLRSLGATLKHSYREV376
KCNS2V---V--------ESTPTLANLGRVAQVLR>L<MRIFRILKLARHSTGLRSLGATLKYSYKEV329
KCNS3K---E--------EESEDIENMGKVVQILR>L<MRIFRILKLARHSVGLRSLGATLRHSYHEV324
KCNV1LSG-S--------QTTQELENVGRIVQVLR>L<LRALRMLKLGRHSTGLRSLGMTITQCYEEV346
KCNV2FTGEGH----QRGQTVGSVGKVGQVLRVMR>L<MRIFRILKLARHSTGLRAFGFTLRQCYQQV411
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 232 for KCNQ1.